Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.
Department of Cardiology, University Medical Center Utrecht, Utrecht University, Internal Mail No HTx Secr. (E03.511), Postbus 85500, 3508 GA, Utrecht, the Netherlands.
J Cardiovasc Transl Res. 2023 Dec;16(6):1267-1275. doi: 10.1007/s12265-023-10398-2. Epub 2023 Jun 6.
Hypertrophic cardiomyopathy (HCM) is a relatively common genetic heart disease characterised by myocardial hypertrophy. HCM can cause outflow tract obstruction, sudden cardiac death and heart failure, but severity is highly variable. In this exploratory cross-sectional study, circulating acylcarnitines were assessed as potential biomarkers in 124 MYBPC3 founder variant carriers (59 with severe HCM, 26 with mild HCM and 39 phenotype-negative [G + P-]). Elastic net logistic regression identified eight acylcarnitines associated with HCM severity. C3, C4, C6-DC, C8:1, C16, C18 and C18:2 were significantly increased in severe HCM compared to G + P-, and C3, C6-DC, C8:1 and C18 in mild HCM compared to G + P-. In multivariable linear regression, C6-DC and C8:1 correlated to log-transformed maximum wall thickness (coefficient 5.01, p = 0.005 and coefficient 0.803, p = 0.007, respectively), and C6-DC to log-transformed ejection fraction (coefficient -2.50, p = 0.004). Acylcarnitines seem promising biomarkers for HCM severity, however prospective studies are required to determine their prognostic value.
肥厚型心肌病（HCM）是一种较为常见的遗传性心脏病，其特征为心肌肥厚。HCM 可导致流出道梗阻、心源性猝死和心力衰竭，但严重程度差异很大。在这项探索性的横断面研究中，我们评估了循环酰基辅酶 A 作为 124 名 MYBPC3 启动子变异携带者（59 名严重 HCM 患者、26 名轻度 HCM 患者和 39 名表型阴性[G+P-]患者）潜在生物标志物的作用。弹性网络逻辑回归确定了与 HCM 严重程度相关的 8 种酰基辅酶 A。与 G+P-相比，严重 HCM 患者的 C3、C4、C6-DC、C8:1、C16、C18 和 C18:2 显著升高，与 G+P-相比，轻度 HCM 患者的 C3、C6-DC、C8:1 和 C18 显著升高。在多变量线性回归中，C6-DC 和 C8:1 与最大壁厚度的对数呈正相关（系数分别为 5.01，p=0.005 和系数为 0.803，p=0.007），C6-DC 与射血分数的对数呈负相关（系数为-2.50，p=0.004）。酰基辅酶 A 似乎是 HCM 严重程度的有前途的生物标志物，但需要前瞻性研究来确定其预后价值。
